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Introduction to THE HUMAN GENOME PROJECT (HGP)

Lecture Guide

BIOL 116HY 10/06/08

Students should access each of the links in this guide. Read the specific instructions
below regarding the information students are responsible for learning on these sites.
Additional required readings are found in Supplements.

1. Click on: http://www.ornl.gov/TechResources/Human_Genome/home.html


'Human Genome Project Information'.

· Goals (found on this page).

· Gene Mapping: Finding the location of genes (loci) on the


chromosomes.

· Genome: All of the DNA or genes.

· Proteome: All of the proteins.

2. Click on Genomes to Life.

• The basic purpose of the GTL program is to obtain a fundamental,


comprehensive, and systematic understanding of life. The plan for the 10-year
program is to use DNA sequences from microbes and higher organisms, including
humans, as starting points for systematically tackling questions about the essential
processes of living systems. Advanced technological and computational resources
will help to identify and understand the underlying mechanisms that enable
organisms to develop, survive, carry out their normal functions, and reproduce
under myriad environmental conditions.

• Specific GTL goals are to :

· identify the protein machines (the combination of one or more proteins and
other molecules that carry out some function for the cell) that carry out critical
life functions, understand what controls when and how these protein machines
are synthesized.

· explore microbial communities in their natural environments to provide a


foundation for understanding cell-to-cell communication and interactions.

· develop the computational capabilities to integrate and understand these data


and begin to model complex biological systems.

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3. Gene Gateway Click here: http://www.ornl.gov/hgmis/posters/chromosome/

This link is primarily for students interested in any of these topics. The site contains a
Genetic Disorder Guide with information concerning many genetic disorders and health
related resources. You should know that one of the important groups for accessing
genetic health information is the Genetic Alliance.

4. Click on: http://www.ornl.gov/hgmis/medicine/medicine.html

Read the topics below on this web page. Only click on 'Pharmacogenomics'. Stop at
Publications, Multimedia and Newsletter.

• Diagnosing Disease.

• Predicting Disease.

• Predicting Disease Susceptibility (risk of acquiring a disease).

• Disease Intervention.

• Pharmacogenomics: The study of how an individual's genetic inheritance affects


the body's response to drugs. The term comes from the words pharmacology and
genomics and is thus the intersection of pharmaceuticals and genetics.

Pharmacogenomics holds the promise that drugs might one day be tailor-made for
individuals and adapted to each person's own genetic makeup. Environment, diet,
age, lifestyle, and state of health all can influence a person's response to
medicines, but understanding an individual's genetic makeup is thought to be the
key to creating personalized drugs with greater efficacy and safety.

· Gene Therapy: Inserting new genes into an organism to treat disease.

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5. Click on: http://www.ornl.gov/hgmis/elsi/elsi.html

Read each of the following on this web page. Stop at ‘Articles’.

· Fairness in the use of genetic information.

· Privacy and confidentiality.

· Psychological impact and stigmatization.

· Reproductive issues.

· Clinical issues.

· Uncertainties associated with gene tests.

· Conceptual and philosophical implications regarding human responsibility, free


will vs.

genetic determinism, and concepts of health and disease.

· Health and environmental issues.

· Commercialization of products.

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Exam Review

1. Know the definitions of the terms and understand the concepts in this
document.

2. Some definitions are given below. Write the appropriate word for each of
the definitions below.

a. Finding the location of the genes on the chromosomes.

b. A large-scale, worldwide project whose primary mission is to


sequence and map all of the human genes.

c. An organism’s complete set of genes.

c. The combination of one or more proteins and other molecules that


carry out some function for the cell.

d. The study of how an individual's genetic inheritance affects the


body's response to drugs.

e. Inserting new genes into an organism to treat disease.

3. What does ELSI stand for?

4. What are two goals of the Human Genome Project?

5. List several predicted benefits of the HGP.

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6. List two specific goals of the Genomes to Life program.

7. List several ethical, legal, and social issues concerning the HGP or genetic
technologies in general.

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